Functional analysis of a novel mutation in the TIMM8A gene that causes deafness‐dystonia‐optic neuronopathy syndrome

Abstract Background The rare, X‐linked neurodegenerative disorder, Mohr–Tranebjaerg syndrome (also called deafness‐dystonia‐optic neuronopathy [DDON] syndrome), is caused by mutations in the TIMM8A gene. DDON syndrome is characterized by dystonia, early‐onset deafness, and various other neurological...

Бүрэн тодорхойлолт

Номзүйн дэлгэрэнгүй

Үндсэн зохиолчид:	Addison Neighbors, Tonya Moss, Lynda Holloway, Seok‐Ho Yu, Fran Annese, Steve Skinner, Russell Saneto, Richard Steet
Формат:	Artigo
Хэл сонгох:	Inglês
Хэвлэсэн:	Wiley 2020-03-01
Цуврал:	Molecular Genetics & Genomic Medicine
Нөхцлүүд:	deafness‐dystonia‐optic neuronopathy syndrome Mohr–Tranebjaerg syndrome mitochondrial inner membrane TIMM8A gene X chromosome
Онлайн хандалт:	https://doi.org/10.1002/mgg3.1121
Шошгууд:	Шошго нэмэх Шошго байхгүй, Энэхүү баримтыг шошголох эхний хүн болох!